Rare Diseases under letter "B"
Babesiosis ↗ Bacterial toxic-shock syndrome ↗ BAFME ↗ Bahemuka-Brown syndrome ↗ Baird syndrome ↗ Bakrania-Ragge syndrome ↗ Balantidiasis ↗ Balantidiosis ↗ Balikova-Vermeesch syndrome ↗ B-ALL ↗ Ballard syndrome ↗ Baller-Gerold syndrome ↗ Ballooning cardiomyopathy ↗ Balò concentric sclerosis ↗ Bamboo hair syndrome ↗ Bamforth-Lazarus syndrome ↗ Bamforth syndrome ↗ Bangstad syndrome ↗ Bangungut ↗ Banki syndrome ↗ Bannayan-Riley-Ruvalcaba syndrome ↗ Bantu siderosis ↗ Baraitser-Brett-Piesowicz syndrome ↗ Baraitser-Burn syndrome ↗ Baraitser-Reardon syndrome ↗ Baraitser-Winter syndrome ↗ Barakat syndrome ↗ Barber-Say syndrome ↗ Bardet-Biedl syndrome ↗ Bare lymphocyte syndrome type 1 ↗ Bare lymphocyte syndrome type 2 ↗ Barnes syndrome ↗ Barnicoat-Baraitser syndrome ↗ Barraquer-Simons syndrome ↗ Barth syndrome ↗ Bartonellosis due to Bartonella bacilliformis infection ↗ Bartonellosis due to Bartonella henselae infection ↗ Bartonellosis due to Bartonella quintana infection ↗ Bart-Pumphrey syndrome ↗ Bartsocas-Papas syndrome ↗ Bartter syndrome ↗ Bartter syndrome type 3 ↗ Bartter syndrome type 4 ↗ Bartter syndrome type 5 ↗ Bartter syndrome type V ↗ Bartter syndrome with hypocalcemia ↗ Basal cell nevus syndrome ↗ Basal encephalocele ↗ Basan syndrome ↗ Basaran-Yilmaz syndrome ↗ Basel-Vanagaite-Sirota syndrome ↗ BASM syndrome ↗ Bassen-Kornzweig disease ↗ Bassoe syndrome ↗ Bathing suit ichthyosis ↗ Battaglia-Neri syndrome ↗ Batten disease ↗ Baughman syndrome ↗ Bazex-Dupre-Christol syndrome ↗ Bazex syndrome ↗ Bazopoulou-Kyrkanidou syndrome ↗ BBS ↗ BCD ↗ B-cell prolymphocytic leukemia ↗ BCKD deficiency ↗ BDC ↗ Bd syndrome ↗ Beals-Hecht syndrome ↗ Beals syndrome ↗ Bean syndrome ↗ Beare-Stevenson cutis gyrata syndrome ↗ Becker dystrophinopathy ↗ Becker muscular dystrophy ↗ Becker nevus syndrome ↗ Beckwith-Wiedemann syndrome ↗ Beckwith-Wiedemann syndrome due to 11p15 microdeletion ↗ Beckwith-Wiedemann syndrome due to 11p15 microduplication ↗ Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion ↗ Beckwith-Wiedemann syndrome due to CDKN1C mutation ↗ Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 ↗ Beckwith-Wiedemann syndrome due to NSD1 mutation ↗ Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 ↗ Bedouin spastic ataxia syndrome ↗ BEEC ↗ Beemer-Ertbruggen syndrome ↗ Behavioural variant of frontotemporal dementia ↗ Behcet disease ↗ Behrens-Baumann-Vogel syndrome ↗ Behr syndrome ↗ Bellini carcinoma ↗ Bellini duct carcinoma ↗ Bellini syndrome ↗ Bell's palsy ↗ Benallegue-Lacete syndrome ↗ Ben Ari-Shuper-Mimouni syndrome ↗ Bencze syndrome ↗ Benign adult familial myoclonic epilepsy ↗ Benign adult familial myoclonic epilepsy type 1 ↗ Benign adult familial myoclonic epilepsy type 2 ↗ Benign autosomal dominant myopathy ↗ Benign cephalic histiocytosis ↗ Benign childhood occipital epilepsy, Gastaut type ↗ Benign childhood occipital epilepsy, Panayiotopoulos type ↗ Benign chronic familial pemphigus of Hailey-Hailey ↗ Benign concentric annular macular dystrophy ↗ Benign essential blepharospasm ↗ Benign exophthalmos syndrome ↗ Benign familial chorea ↗ Benign familial epilepsy of childhood with rolandic spikes ↗ Benign familial hypobetalipoproteinemia ↗ Benign familial infantile convulsions ↗ Benign familial infantile epilepsy ↗ Benign familial infantile seizures ↗ Benign familial mesial temporal lobe epilepsy ↗ Benign familial neonatal convulsions ↗ Benign familial neonatal epilepsy ↗ Benign familial neonatal-infantile seizures ↗ Benign familial neonatal seizures ↗ Benign familial nocturnal alternating hemiplegia in childhood ↗ Benign familial nocturnal alternating hemiplegia of childhood ↗ Benign focal amyotrophy ↗ Benign idiopathic neonatal seizures ↗ Benign infantile focal epilepsy with midline spikes and wave during sleep ↗ Benign infantile seizures associated to mild gastroenteritis ↗ Benign intracranial hypertension ↗ Benign joint hypermobility syndrome ↗ Benign multicystic peritoneal mesothelioma ↗ Benign myoclonic epilepsy of infancy ↗ Benign neonatal-infantile epilepsy ↗ Benign non-familial infantile seizures ↗ Benign occipital epilepsy ↗ Benign paroxysmal torticollis of infancy ↗ Benign partial epilepsy of infancy with complex partial seizures ↗ Benign partial epilepsy with secondarily generalized seizures in infancy ↗ Benign partial infantile seizures ↗ Benign peripheral nerve sheath tumor ↗ Benign recurrent intrahepatic cholestasis ↗ Benign recurrent intrahepatic cholestasis type 1 ↗ Benign recurrent intrahepatic cholestasis type 2 ↗ Benign schwannoma ↗ Benign tumor of fallopian tube ↗ Bennion-Patterson syndrome ↗ Benson's syndrome ↗ Beradinelli-Seip syndrome ↗ Berant syndrome ↗ Berardinelli-Seip congenital lipodystrophy ↗ Berdon syndrome ↗ Berk-Tabatznik syndrome ↗ Berlin breakage syndrome ↗ Bernard-Soulier syndrome ↗ Berylliosis ↗ Beryllium granulomatosis ↗ Beryllium pneumonosis ↗ BES ↗ Besnier-Boeck-Schaumann disease ↗ Bessel-Hagen disease ↗ Best disease ↗ Beta2-microglobulinic amyloidosis ↗ Beta-alanine synthase deficiency ↗ Beta-enolase deficiency ↗ Beta-glucuronidase deficiency ↗ Beta-mannosidase deficiency ↗ Beta-mannosidosis ↗ Beta-sarcoglycanopathy ↗ Beta-thalassemia ↗ Beta-thalassemia associated with another Hb anomaly ↗ Beta-thalassemia associated with another hemoglobin anomaly ↗ Beta-thalassemia intermedia ↗ Beta-thalassemia major ↗ Beta-thalassemia - trichothiodystrophy ↗ Beta-thalassemia with other manifestations ↗ Beta-thalassemia - X-linked thrombocytopenia ↗ Beta-ureidopropionase deficiency ↗ Bethlem myopathy ↗ Beukes familial hip dysplasia ↗ BFHD ↗ BFNIS ↗ Bicervical bicornuate uterus ↗ Bicervical bicornuate uterus and blind hemi-vagina ↗ Bicervical bicornuate uterus one-eyed hemi-vagina ↗ Bicervical bicornuate uterus with patent cervix and vagina ↗ Bickel-Fanconi glycogenosis ↗ Bickers-Adams syndrome ↗ Bickerstaff's brainstem encephalitis ↗ Bidirectional tachycardia ↗ Bidirectional tachycardia induced by catecholamine ↗ BIDS syndrome ↗ Biemond syndrome ↗ Bietti's crystalline dystrophy ↗ Bifid femur - monodactylous ectrodactyly ↗ Bifid nose ↗ Bifid nose with or without anorectal and renal anomalies ↗ Bifid uvula ↗ Bifunctional enzyme deficiency ↗ BIG-H3-related corneal dystrophy ↗ Bilateral anorchia ↗ Bilateral anterior opercular syndrome ↗ Bilateral choanal atresia ↗ Bilateral frontal polymicrogyria ↗ Bilateral frontoparietal polymicrogyria ↗ Bilateral generalised polymicrogyria ↗ Bilateral microtia - deafness - cleft palate ↗ Bilateral multicystic renal dysplasia ↗ Bilateral parasagittal parieto-occipital polymicrogyria ↗ Bilateral perisylvian polymicrogyria ↗ Bilateral polymicrogyria ↗ Bilateral renal agenesis ↗ Bilateral renal dysplasia ↗ Bilateral renal hypoplasia ↗ Bilateral striopallidodentate calcinosis ↗ Bile acid CoA ligase deficiency ↗ Bile duct cancer ↗ Biliary atresia ↗ Biliary atresia with splenic malformation syndrome ↗ Biliary tract malformation - renal failure ↗ Bilineal acute leukemia ↗ Bilirubin-UGT deficiency ↗ Bilirubin-UGT deficiency type 1 ↗ Bilirubin-UGT deficiency type 2 ↗ Bilirubin uridinediphosphate glucuronosyltransferase deficiency ↗ Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1 ↗ Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2 ↗ Billard-Toutain-Maheut syndrome ↗ Binder syndrome ↗ Bindewald-Ulmer-Muller syndrome ↗ Binswanger disease ↗ Biotinidase deficiency ↗ Biotin-responsive basal ganglia disease ↗ Bird fancier's lung ↗ Bird headed-dwarfism, Montreal type ↗ Birt-Hogg-Dube syndrome ↗ Bitemporal aplasia cutis congenital ↗ Bixler-Christian-Gorlin syndrome ↗ BJHS ↗ Björnstad syndrome ↗ Blackfan-Diamond anemia ↗ Blackfan-Diamond disease ↗ Bladder exstrophy ↗ Bladder exstrophy-epispadias-cloacal extrophy complex ↗ Bladder pain syndrome ↗ Blaichman syndrome ↗ Blake's pouch cyst ↗ Blastic NK cell lymphoma ↗ Blastogenesis defect ↗ Blau syndrome ↗ BLC ↗ Bleeding diathesis due to a collagen receptor defect ↗ Bleeding diathesis due to glycoprotein VI deficiency ↗ Bleeding diathesis due to integrin alpha2-beta1 deficiency ↗ Bleeding diathesis due to thromboxane synthesis deficiency ↗ Blelpharophimosis - telecanthus - microstomia ↗ Blepharochalasia - double lip ↗ Blepharo-cheilo-odontic syndrome ↗ Blepharo-facio-skeletal syndrome ↗ Blepharo-facio-skeletal syndrome ↗ Blepharonasofacial malformation syndrome ↗ Blepharophimosis - epicanthus inversus - ptosis ↗ Blepharophimosis - epicanthus inversus - ptosis, due to 3q23 microdeletion ↗ Blepharophimosis - epicanthus inversus - ptosis due to a point mutation ↗ Blepharophimosis - epicanthus inversus - ptosis, due to del(3)(q23) ↗ Blepharophimosis - epicanthus inversus - ptosis, due to monosomy 3q23 ↗ Blepharophimosis - epicanthus inversus - ptosis due to polyA expansion ↗ Blepharophimosis - ptosis - esotropia - syndactyly - short stature ↗ Blepharophimosis - radioulnar synostosis ↗ Blepharophimosis syndrome, Ohdo type ↗ Blepharophimosis types 1 and 2 ↗ Blepharophimosis types 1 and 2, due to 3q23 microdeletion ↗ Blepharophimosis types 1 and 2 due to a point mutation ↗ Blepharophimosis types 1 and 2, due to del(3)(q23) ↗ Blepharophimosis types 1 and 2, due to monosomy 3q23 ↗ Blepharophimosis types 1 and 2 due to polyA expansion ↗ Blepharoptosis - cleft palate - ectrodactyly - dental anomalies ↗ Blepharoptosis - myopia - ectopia lentis ↗ Blepharospasm - oromandibular dystonia ↗ Blethen-Wenick-Hawkins syndrome ↗ Blighia sapida, acute intoxication ↗ Blindness - scoliosis - arachnodactyly ↗ Bloch-Sulzberger syndrome ↗ Blomstrand's lethal chondrodysplasia ↗ Bloom syndrome ↗ Blount disease ↗ Blue colour blindness ↗ Blue cone monochromatism ↗ Blue diaper syndrome ↗ Blue rubber bleb nevus ↗ BMD ↗ BNAR syndrome ↗ Bockenheimer syndrome ↗ Boder syndrome ↗ BOD syndrome ↗ Body cavity-based lymphoma ↗ Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency ↗ Boeck sarcoid ↗ Boeck's sarcoid ↗ BOFS ↗ Bohring-Opitz syndrome ↗ Bohring syndrome ↗ Boichis disease ↗ Bone dysplasia, Azouz type ↗ Bone dysplasia - medullary fibrosarcoma ↗ Bone fragility - craniosynostosis - proptosis - hydrocephalus ↗ Bone marrow failure ↗ Bonneau-Beaumont syndrome ↗ Bonneau syndrome ↗ Bonnemann-Meinecke-Reich syndrome ↗ Bonnemann-Meinecke syndrome ↗ Bonnet-Dechaume-Blanc syndrome ↗ Book syndrome ↗ Boomerang dysplasia ↗ BOOP ↗ Booth-Haworth-Dilling syndrome ↗ Borderline ovarian epithelial tumor ↗ Borjeson-Forssman-Lehmann syndrome ↗ Bork syndrome ↗ Bornholm eye disease ↗ Borrmann gastric cancer type 4 ↗ BOR syndrome ↗ Bosley-Salih-Alorainy syndrome ↗ Bosma-Henkin-Christiansen syndrome ↗ BOS syndrome ↗ Bothnia retinal dystrophy ↗ Bothriocephalosis ↗ Botulism ↗ Boucher-Neuhauser syndrome ↗ Bourneville syndrome ↗ Boutonneuse fever ↗ Bowed tibiae - radial anomalies - osteopenia - fractures ↗ Bowen-Conradi syndrome ↗ Bowen syndrome ↗ Bowen syndrome, Hutterite type ↗ Boxer's dementia ↗ Boyadjiev-Jabs syndrome ↗ Boylan-Dew syndrome ↗ BPD ↗ BPNST ↗ Braak's disease ↗ Brachmann-de Lange syndrome ↗ Brachycephalofrontonasal dysplasia ↗ Brachycephaly - deafness - cataract - intellectual deficit ↗ Brachydactylous dwarfism, Mseleni type ↗ Brachydactyly - anonychia ↗ Brachydactyly - arterial hypertension ↗ Brachydactyly - elbow wrist dysplasia ↗ Brachydactyly, Farabee type ↗ Brachydactyly-intellectual deficit ↗ Brachydactyly - long thumb ↗ Brachydactyly - mesomelia - intellectual deficit - heart defects ↗ Brachydactyly, Mohr-Wriedt type ↗ Brachydactyly - nystagmus - cerebellar ataxia ↗ Brachydactyly - preaxial hallux varus ↗ Brachydactyly - scoliosis - carpal fusion ↗ Brachydactyly, Smorgasbord type ↗ Brachydactyly-symphalangism syndrome ↗ Brachydactyly-syndactyly, Zhao type ↗ Brachydactyly, Temtamy type ↗ Brachydactyly - tibial hypoplasia ↗ Brachydactyly type A1 ↗ Brachydactyly type A2 ↗ Brachydactyly type A4 ↗ Brachydactyly type A5 ↗ Brachydactyly type A6 ↗ Brachydactyly type A7 ↗ Brachydactyly type B ↗ Brachydactyly type B2 ↗ Brachydactyly type C ↗ Brachydactyly type E ↗ Brachydactyly types B and E combined ↗ Brachymesophalangy II and V ↗ Brachymorphism - onychodysplasia - dysphalangism ↗ Brachyolmia ↗ Brachyolmia, Maroteaux type ↗ Brachyolmia type 1, Hobaek type ↗ Brachyolmia type 1, Toledo type ↗ Brachyolmia type 2 ↗ Brachyolmia type 3 ↗ Brachytelephalangic chondrodysplasia punctata ↗ Brachytelephalangy - dysmorphism - Kallmann syndrome ↗ Bradbury-Eggleston syndrome ↗ Braddock-Carey syndrome ↗ Braddock-Jones-Superneau syndrome ↗ Braddock syndrome ↗ Bradyopsia ↗ Brain calcification, Rajab type ↗ Brain demyelination due to methionine adenosyltransferase deficiency ↗ Brain-lung-thyroid syndrome ↗ Brain malformation - congenital heart disease - postaxial polydactyly ↗ Brain small vessel disease with hemorrage ↗ Brain stem tumor ↗ Brain tumor ↗ Branched chain keto acid dehydrogenase complex deficiency ↗ Branched-chain ketoacid dehydrogenase deficiency ↗ Branched-chain ketoaciduria ↗ Branchial dysplasia - intellectual deficit - inguinal hernia ↗ Branchiogenic deafness syndrome ↗ Branchio-oculo-facial syndrome ↗ Branchio-otic syndrome ↗ Branchiootorenal syndrome ↗ Branchio-skeleto-genital syndrome ↗ Brauer-Buschke-Fischer syndrome ↗ Brauer syndrome ↗ Braun-Bayer syndrome ↗ BRESEK syndrome ↗ BRESHECK syndrome ↗ BRIC ↗ Brill-Zinsser disease ↗ Brittle bone disease ↗ Brittle cornea syndrome ↗ Brittle hair - mental deficiency ↗ Brittle hair syndrome, Sabinas type ↗ Broad-betalipoproteinemia ↗ Brody myopathy ↗ Bronchial carcinoid tumor ↗ Bronchial endocrine tumor ↗ Bronchial neuroendocrine tumor ↗ Bronchiectasis - oligospermia ↗ Bronchiolitis obliterans organizing pneumonia ↗ Bronchiolitis obliterans with obstructive pulmonary disease ↗ Bronchogenic cyst ↗ Bronchopulmonary dysplasia ↗ Bronspiegel-Zelnick syndrome ↗ Brooke-Spiegler syndrome ↗ Brown-Vialetto-van Laere syndrome ↗ BRSS ↗ Brucellosis ↗ Bruck syndrome ↗ Brugada syndrome ↗ Brunner-Winter syndrome ↗ Brunzell syndrome ↗ Bruton type agammaglobulinemia ↗ BS ↗ BSCL ↗ BSEP deficiency ↗ BSI ↗ BSLE ↗ BSPDC ↗ BTD deficiency ↗ BTHS ↗ BTK-deficiency ↗ Buckley syndrome ↗ Budd-Chiari syndrome ↗ Buerger's disease ↗ Bulbospinal muscular atrophy ↗ Bull-Nixon syndrome ↗ Bullous DCM ↗ Bullous diffuse cutaneous mastocytosis ↗ Bullous dystrophy, macular type ↗ Bullous impetigo ↗ Bullous lichen planus ↗ Bullous pemphigoid ↗ Bullous systemic lupus erythematosus ↗ Buntinx-Lormans-Martin syndrome ↗ Burkitt lymphoma ↗ Burn-McKeown syndrome ↗ Burton disease ↗ Burton skeletal dysplasia Burton syndrome Buschke-Fischer-Brauer syndrome Buschke-Ollendorff syndrome Butterfly-shaped pigment dystrophy Buttiens-Fryns syndrome Butyrylcholinesterase deficiency bv-FTD Byler disease